All Relations between Tuberous Sclerosis and tsc2

Publication Sentence Publish Date Extraction Date Species
Rebecca A Reynolds, Diane J Aum, Ignacio Gonzalez-Gomez, Michael Wong, Kaleigh Roberts, Sonika Dahiya, Luis F Rodriguez, Jarod L Roland, Matthew D Smyt. Subependymal giant-cell astrocytomas in the absence of tuberous sclerosis. Journal of neurosurgery. Pediatrics. 2023-06-17. PMID:37327147. tuberous sclerosis is a rare genetic condition caused by tsc1 or tsc2 mutations that can be inherited, sporadic, or the result of somatic mosaicism. 2023-06-17 2023-08-14 Not clear
Kleanthi Chalkiadaki, Elpida Statoulla, Maria Zafeiri, Nabila Haji, Jean-Claude Lacaille, Craig M Powell, Seyed Mehdi Jafarnejad, Arkady Khoutorsky, Christos G Gkogka. Reversal of memory and autism-related phenotypes in Frontiers in cell and developmental biology. vol 11. 2023-06-09. PMID:37293130. reversal of memory and autism-related phenotypes in tuberous sclerosis complex (tsc) is a rare monogenic disorder co-diagnosed with high rates of autism and is caused by loss of function mutations in the tsc1 or tsc2 genes. 2023-06-09 2023-08-14 mouse
Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niid. Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene. Stem cell research. vol 70. 2023-06-04. PMID:37271041. establishment of human induced pluripotent stem cell lines, kmugmci006, from a patient with tuberous sclerosis complex (tsc) bearing mosaic nonsense mutations in the tuberous sclerosis complex 2 (tsc2) gene. 2023-06-04 2023-08-14 human
Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niid. Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene. Stem cell research. vol 70. 2023-06-04. PMID:37271041. tuberous sclerosis complex (tsc) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either tsc1 or tsc2. 2023-06-04 2023-08-14 human
Agung Triono, Elisabeth S Herini, Kristy Iskandar, Marissa L Hadiyanto, Kania Diantika, Veronica W Wijayanti, Gunad. De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report. Annals of medicine and surgery (2012). vol 85. issue 5. 2023-05-25. PMID:37228977. de novo mutation of the tsc2 gene in patient with tuberous sclerosis complex-associated neuropsychiatric disorders (tand) phenotype: a case report. 2023-05-25 2023-08-14 Not clear
Elisabetta Chiaradia, Ingrid Miller, Giovanni Renzone, Alessia Tognoloni, Alice Polchi, Federico De Marco, Brunella Tancini, Andrea Scaloni, Alessandro Magin. Proteomic analysis of murine Tsc1-deficient neural stem progenitor cells. Journal of proteomics. 2023-05-19. PMID:37207814. significance: tuberous sclerosis complex (tsc) is a multisystemic disorder caused by inactivating mutations of tsc1 or tsc2 genes, which induce overactivation of the mtor component. 2023-05-19 2023-08-14 Not clear
Katarzyna Klonowska, Krinio Giannikou, Joannes M Grevelink, Barbara Boeszoermenyi, Aaron R Thorner, Zachary T Herbert, Antara Afrin, Alison M Treichel, Lana Hamieh, Katarzyna Kotulska, Sergiusz Jozwiak, Joel Moss, Thomas N Darling, David J Kwiatkowsk. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex. American journal of human genetics. 2023-05-04. PMID:37141891. tuberous sclerosis complex (tsc) is a neurogenetic disorder due to loss-of-function tsc1 or tsc2 variants, characterized by tumors affecting multiple organs, including skin, brain, heart, lung, and kidney. 2023-05-04 2023-08-14 Not clear
Fateme Tehrani, Nahideh Khosroshahi, Zarrin Keihani Doust, Soheila Dabiran, Mohammad Reza Zarkes. The Efficacy and Safety of Rapamycin in Children with Tuberous Sclerosis: A Cross-sectional Study. Iranian journal of child neurology. vol 17. issue 2. 2023-04-24. PMID:37091468. mutations in tsc1 or tsc2 genes have been proposed as the main causative factors responsible for developing tuberous sclerosis complex (tsc). 2023-04-24 2023-08-14 Not clear
Elisa Montaguti, Valentina Gesuete, Antonella Perolo, Anna Balducci, Marta Fiorentini, Andrea Donti, Gianluigi Pil. A case of massive fetal cardiac rhabdomyoma: ultrasound features and management. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. vol 36. issue 1. 2023-04-09. PMID:37031967. fetal echoencephalography and brain magnetic resonance did not show any further fetal anomalies, but molecular genetic testing at amniocentesis revealed a heterozygotic missense variant of gene tsc2 associated with tuberous sclerosis. 2023-04-09 2023-08-14 Not clear
Nyamdelger Sukhbaatar, Maria Schöller, Stephanie Deborah Fritsch, Monika Linke, Stefanie Horer, Manuela Träger, Mario Mazic, Stephan Forisch, Karine Gonzales, Jan Pascal Kahler, Carina Binder, Caroline Lassnig, Birgit Strobl, Mathias Mueller, Barbara Scheiber-Mojdehkar, Claudia Gundacker, Stefanie Dabsch, Renate Kain, Markus Hengstschläger, Steven Verhelst, Günter Weiss, Igor Theurl, Thomas Weichhar. Duodenal macrophages control dietary iron absorption via local degradation of transferrin. Blood. 2023-04-05. PMID:37018657. by assessing mice that harbor a macrophage-specific deletion of the tuberous sclerosis complex 2 (tsc2), a negative regulator of mtorc1, we found that these mice possessed various defects in iron metabolism including defective steady state erythropoiesis and a reduced saturation of transferrin with iron. 2023-04-05 2023-08-14 mouse
Keiko Nishikawa, Yoshihiro Mezawa, Toshiyuki Kobayash. Bcat1 is controlled by Tsc2/mTORC1 pathway at expression levels and its deficiency together with Bcat2 inactivation suppresses the growth of a Tsc2 Genes to cells : devoted to molecular & cellular mechanisms. 2023-03-25. PMID:36965015. bcat1 is controlled by tsc2/mtorc1 pathway at expression levels and its deficiency together with bcat2 inactivation suppresses the growth of a tsc2 the tuberous sclerosis complex (tsc) gene products (tsc1/tsc2) negatively regulate mtorc1. 2023-03-25 2023-08-14 Not clear
Lijun Lv, Jiyu Guan, Ruixue Zhen, Pin Lv, Mengshi Xu, Xingyuan Liu, Shishi He, Ziyu Fang, Zi Li, Yungang Lan, Huijun Lu, Wenqi He, Feng Gao, Kui Zha. Orf virus induces complete autophagy to promote viral replication via inhibition of AKT/mTOR and activation of the ERK1/2/mTOR signalling pathway in OFTu cells. Veterinary research. vol 54. issue 1. 2023-03-15. PMID:36918891. moreover, orfv-induced autophagic activity was found to rely on an increase in the phosphorylation of tuberous sclerosis complex 2 (tsc2) and a decrease in the phosphorylation of mammalian target of rapamycin (mtor), which is mediated by the suppression of the pi3k/akt/mtor signalling pathway and activation of the erk1/2/mtor signalling pathway. 2023-03-15 2023-08-14 Not clear
Eduardo Félix Martins Santana, Ana Maria Faria Esteves, Daniella Guerra Delorenzo, Celso Hygino, Heron Werner, Edward Araujo Júnio. Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging-A Report of Two Cases. The Indian journal of radiology & imaging. vol 33. issue 1. 2023-03-01. PMID:36855718. tuberous sclerosis complex (tsc) is a multiple system neurocutaneous syndrome with a genetic disorder caused by different mutations in tsc1 or tsc2. 2023-03-01 2023-08-14 Not clear
Gesabel Yaneth Navarro-Velasco, Antonio Di Pietro, Manuel Sánchez López-Berge. Constitutive activation of TORC1 signalling attenuates virulence in the cross-kingdom fungal pathogen Fusarium oxysporum. Molecular plant pathology. 2023-02-25. PMID:36840362. inactivation of the negative regulator tuberous sclerosis complex 2 (tsc2), but not constitutive activation of the positive regulator gtr1, in f. oxysporum resulted in inappropriate activation of torc1 signalling under nutrient-limiting conditions. 2023-02-25 2023-08-14 Not clear
Chao Gao, Bernadeta Zabielska, Fuyong Jiao, Daoqi Mei, Xiaona Wang, Katarzyna Kotulska, Sergiusz Jozwia. Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex-Current Views on Their Pathogenesis and Management. Journal of clinical medicine. vol 12. issue 3. 2023-02-11. PMID:36769603. introduction, tuberous sclerosis complex (tsc) is an autosomal-dominant disorder caused by mutations inactivating tsc1 or tsc2 genes and characterized by the presence of tumors involving many organs, including the brain, heart, kidneys, and skin. 2023-02-11 2023-08-14 Not clear
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Iked. Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. Human genomics. vol 17. issue 1. 2023-02-03. PMID:36732866. tsc2 mutation rather than tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. 2023-02-03 2023-08-14 mouse
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Iked. Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. Human genomics. vol 17. issue 1. 2023-02-03. PMID:36732866. tuberous sclerosis complex is caused by pathogenic germline mutations of either the tsc1 or tsc2 gene, but somatic mutations were identified in both genes, and the combined effects of tsc1 and tsc2 mutations have been unknown. 2023-02-03 2023-08-14 mouse
Meng Liu, Jing-Wen Mai, De-Xing Luo, Guan-Xi Liu, Ting Xu, Wen-Jun Xin, Su-Yan Lin, Zhen-Yu L. NFATc2-dependent Epigenetic Downregulation of the TSC2/Beclin-1 Pathway is Involved in Neuropathic Pain Induced by Oxaliplatin. Molecular pain. 2023-02-03. PMID:36733258. utilizing chromatin immunoprecipitation-sequencing (chip-seq) assay combined with bioinformatics analysis, we found that nfatc2 negatively regulated the transcription of tuberous sclerosis complex protein 2 (tsc2), which contributed to the oxaliplatin-induced beclin-1 downregulation. 2023-02-03 2023-08-14 rat
Chun-Pu Lin, Joleen J H Traets, David W Vredevoogd, Nils L Visser, Daniel S Peepe. TSC2 regulates tumor susceptibility to TRAIL-mediated T-cell killing by orchestrating mTOR signaling. The EMBO journal. 2023-01-30. PMID:36715448. here, we use whole-genome crispr-cas9 knockout data to uncover an important role for tuberous sclerosis complex 2 (tsc2) in determining tumor susceptibility to cytotoxic t lymphocyte (ctl) killing in human melanoma cells. 2023-01-30 2023-08-14 human
Satoru Meguro, Tomoyuki Koguchi, Yusuke Hakozaki, Akifumi Onagi, Kanako Matsuoka, Seiji Hoshi, Junya Hata, Yuichi Sato, Hidenori Akaihata, Masao Kataoka, Soichiro Ogawa, Yoshiyuki Kojim. Concurrent Reduced Expression of Contiguous Cancer genomics & proteomics. vol 20. issue 1. 2022-12-29. PMID:36581342. concurrent reduced expression of contiguous several cases of concurrent reduction of expression of polycystin 1 (pkd1) and tuberous sclerosis complex 2 (tsc2) that are contiguous in chromosome 16p13 have been previously reported. 2022-12-29 2023-08-14 Not clear